CMT20 | definition of CMT20 by Medical dictionary
DYNC1H1 (redirected from CMT20)
DYNC1H1 A gene on chromosome 14q32.3-qter that encodes a cytoplasmic dynein complex protein which acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein’s ATPase produces a power stroke with the release of ADP.
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References in periodicals archive
Pathogenic variants in DYNC1H1 may also be allelic for other neurological disorders including Charcot-Marie-Tooth disease; axonal, type 20, CMT20
, and mental retardation; and autosomal dominant 13, with neuronal migration defects, MRD13.